1. Analysis of common genetic variants associated with neuro-synapse development among 60 family trios affected with sporadic autism spectrum disorders
Jian JIAO ; Manxue ZHANG ; Pingyuan YANG ; Yan HUANG ; Xiao HU ; Jia CAI ; Chan YANG ; Mingjing SI-TU ; Hui ZHANG ; Lei FU ; Kuifang GUO ; Yi HUANG
Chinese Journal of Medical Genetics 2020;37(1):1-4
Objective:
To explore susceptibility genes for autism spectrum disorders (ASD).
Methods:
Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates.
Results:
A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [